The gathering, organised by Lee Reavey, co-founder, parent, and Trustee, along with Nuala Ryan, Chair of Trustees and also a parent was held at a hotel in London. It featured a blend of scientific discussions and family-oriented activities, with a fun-filled day at Legoland concluding the event.
The weekend kicked off on Saturday with a series of enlightening talks about NCBRS, a rare neurological disorder. Prof. Paola Nicolaides, who was the first to report the syndrome in 1993 and is a close collaborator of the UCL team from Cyprus, provided a clinical overview of the distinct features of NCBRS. Discussions continued with insights into the genetics of the syndrome by Dr. Stephanie Efthymiou, member of the Neurogenetics Lab at UCL ION and member of the Scientific Advisory Board (SAB), focusing on the SMARCA2 gene and the genetic variants identified in approximately 300 diagnosed individuals.
An exciting new initiative, the This is Me - Rare Passport – by Cambridge Rare Disease Network - CamRare, was introduced by Lee Reavey. This PDF passport allows individuals with a rare or undiagnosed condition of any age, anywhere in the world, to create their own personalised healthcare communication tool. The response from families was overwhelmingly positive, with many eager to start using the tool.
Nuala Ryan highlighted the Sanford Research-led NCBRS Global Patient Registry, emphasising the importance of centralised data for researchers and clinicians. Dr Carine de Marcos Lousa from the SAB and guest speaker Prof Tom Owen-Hughes outlined future research plans, including funding applications and preliminary studies on patient-derived iPSC cells to investigate chromatin remodelling and gene expression pathways.
Dr. Chui Fung Chong, another SAB member, discussed the NCBRS Worldwide Foundation's support for the FaceMatch project. This project uses facial recognition technology to help achieve earlier diagnoses for individuals with distinctive facial features characteristic of NCBRS. Jenny Brown, Trustee also discussed the Foundation’s strategic plans, maximising impact and collaborations with other symptom specific organisations.
The UCL team, including research nurse Ambreen Tariq, was actively involved in collecting blood specimens from affected individuals and their families. These samples are now being processed for future DNA sequencing and the creation of lymphoblastoid cell lines at ECACC, which will be instrumental in further understanding the genetic and biochemical underpinnings of NCBRS.
Dr. Stephanie Efthymiou alongside Prof. Nicolaides conducted individual consultations with each family, gathering detailed family and disease histories and providing advice on symptom management. The information gathered will be used to inform future research publications, aiming to encompass data from a broad sample of individuals diagnosed with NCBRS.
This weekend was not only an opportunity for families to gain deeper insights into NCBRS but also a chance for researchers to engage directly with the community, enhancing both the understanding and treatment of this rare condition.